Source: CLINGEN

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		disease 0.800 definitive 1.000 10 0 1992 2018
Entrez Id: 6591
Gene Symbol: SNAI2
SNAI2 		snail family transcriptional repressor 2 0.505 0.692 0.80
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		disease 0.320 limited 1.000 1 0 2002 2020